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Updated: Jun 5, 2026
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Quantitative PCR-based Assay to Measure Sonic Hedgehog Signaling in Cellular Model of Ciliogenesis
Published on: January 31, 2025
Ciliopathies: an expanding disease spectrum
Aoife M Waters1, Philip L Beales
1Department of Nephro-Urology, Great Ormond Street Hospital, London, WC1N 3JH, UK. a.waters@ich.ucl.ac.uk
Pediatric Nephrology (Berlin, Germany)
|January 7, 2011
Summary
Ciliopathies are genetic disorders affecting cilia, crucial for cell function. Research suggests these defects disrupt cell signaling, leading to diverse symptoms and requiring further study in animal models.
Area of Science:
- Genetics
- Cell Biology
- Developmental Biology
Background:
- Ciliopathies are genetic disorders caused by defects in cilia, organelles present in most vertebrate cells.
- Cilia dysfunction leads to a wide range of symptoms, including retinal degeneration, kidney disease, and brain abnormalities.
Purpose of the Study:
- To explore the underlying mechanisms of ciliopathy phenotypes.
- To investigate the role of aberrant signal transduction in ciliopathies.
- To identify novel ciliary genes associated with ciliopathic features.
Main Methods:
- Review of existing literature on ciliopathies and ciliary proteome.
- Analysis of studies demonstrating ciliary localization of signaling pathways (Hedgehog, Wnt).
- Proposed utilization of conditional and inducible murine models for gene manipulation.
Main Results:
- Over 40 genes are currently linked to ciliopathies, with over 1,000 ciliary proteins identified, suggesting more disease associations.
- Cilia play a critical role in "outside-in" signal transduction.
- Aberrant signal transduction is implicated in the manifestation of ciliopathy phenotypes.
Conclusions:
- Ciliopathies result from impaired ciliary function and aberrant signal transduction.
- Further research is needed to elucidate the developmental and physiological roles of ciliary proteins and signaling pathways.
- Murine models are essential tools for understanding ciliary gene function in disease.
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